Retinal dystrophy, juvenile cataracts, and short stature syndrome

Definition:

Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. RDJCSS is caused by nonsense mutations in retinol dehydrogenase RDH11. In the eye, RDH11 has an oxidoreductive function in the visual cycle.

References:

[1]. Yajing Angela Xie, et al. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 1;23(21):5774-80. [Content Brief]

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